A tiny variation within a single gene may determine the formation of brain convolutions, the deep fissures and convolutions that increase its surface area and allow for rational and abstract thoughts, researchers at Yale University have discovered.
A genetic analysis of a Turkish patient whose brain lacks the characteristic convolutions in part of his cerebral cortex revealed that the deformity was caused by the deletion of two genetic letters from 3 billion in the human genetic alphabet. Similar variations of the same gene, called laminin gamma3 (LAMC3), were discovered in two other patients with similar abnormalities.
An analysis of the gene shows that it is expressed during the embryonic period. This period is vital to the formation of dendrites, which form synapses or connections between brain cells, the researchers said.
They said that although the same gene is present in lower organisms with smooth brains, such as mice, somehow over time it has evolved to gain novel functions that are fundamental for human occipital cortex formation. Its mutation leads to the loss of surface convolutions, a hallmark of the human brain, the researchers said.
Showing posts with label Gene technology. Show all posts
Showing posts with label Gene technology. Show all posts
Monday, May 16, 2011
Tiny variation in one gene may have led to crucial changes in human brain
A tiny variation within a single gene may determine the formation of brain convolutions, the deep fissures and convolutions that increase its surface area and allow for rational and abstract thoughts, researchers at Yale University have discovered.
A genetic analysis of a Turkish patient whose brain lacks the characteristic convolutions in part of his cerebral cortex revealed that the deformity was caused by the deletion of two genetic letters from 3 billion in the human genetic alphabet. Similar variations of the same gene, called laminin gamma3 (LAMC3), were discovered in two other patients with similar abnormalities.
An analysis of the gene shows that it is expressed during the embryonic period. This period is vital to the formation of dendrites, which form synapses or connections between brain cells, the researchers said.
They said that although the same gene is present in lower organisms with smooth brains, such as mice, somehow over time it has evolved to gain novel functions that are fundamental for human occipital cortex formation. Its mutation leads to the loss of surface convolutions, a hallmark of the human brain, the researchers said.
A genetic analysis of a Turkish patient whose brain lacks the characteristic convolutions in part of his cerebral cortex revealed that the deformity was caused by the deletion of two genetic letters from 3 billion in the human genetic alphabet. Similar variations of the same gene, called laminin gamma3 (LAMC3), were discovered in two other patients with similar abnormalities.
An analysis of the gene shows that it is expressed during the embryonic period. This period is vital to the formation of dendrites, which form synapses or connections between brain cells, the researchers said.
They said that although the same gene is present in lower organisms with smooth brains, such as mice, somehow over time it has evolved to gain novel functions that are fundamental for human occipital cortex formation. Its mutation leads to the loss of surface convolutions, a hallmark of the human brain, the researchers said.
‘Master switch’ gene for obesity and diabetes discovered
A gene linked to type 2 diabetes and cholesterol levels is in fact a “master regulator” gene that controls the behavior of other genes found within fat in the body, researchers at King’s College London and the University of Oxford have found.
The researchers examined over 20,000 genes in subcutaneous fat biopsies from 800 UK female twin volunteers.
They found an association between the KLF14 gene (inherited from the mother) and the expression levels of multiple distant genes found in fat tissue. This means that it acts as a master switch to control these genes, the researchers said. This was then confirmed in a further independent sample of 600 subcutaneous fat biopsies from Icelandic subjects.
Other genes controlled by KLF14 are in fact linked to a range of metabolic traits, including body-mass index (obesity), cholesterol, insulin and glucose levels, highlighting the interconnectedness of metabolic traits, the researchers said.
The researchers examined over 20,000 genes in subcutaneous fat biopsies from 800 UK female twin volunteers.
They found an association between the KLF14 gene (inherited from the mother) and the expression levels of multiple distant genes found in fat tissue. This means that it acts as a master switch to control these genes, the researchers said. This was then confirmed in a further independent sample of 600 subcutaneous fat biopsies from Icelandic subjects.
Other genes controlled by KLF14 are in fact linked to a range of metabolic traits, including body-mass index (obesity), cholesterol, insulin and glucose levels, highlighting the interconnectedness of metabolic traits, the researchers said.
Monday, March 21, 2011
Gene therapy for advanced Parkinson’s reduces symptoms
A multi-center gene therapy trial for patients with advanced Parkinson’s disease has demonstrated reduced symptoms of progressive movement disorder, reports Andrew Feigin, MD, associate professor of neurology and molecular medicine at The Feinstein Institute for Medical Research in Manhasset, NY.
The study was designed to deliver the gene for glumatic acid decarboxylase (GAD), packaged in inert viral vectors, into an area of the brain called the subthalamic nucleus. GAD makes an important inhibitory chemical called GABA. The subthalamic nucleus is abnormally activated in Parkinson’s disease, leading to debilitating movement problems.
All participants in the study had a positron emission tomography (PET) brain scan before the surgery to confirm the diagnosis of Parkinson’s disease. Each patient in the active treatment received about a billion viral vectors.
The treated group showed a 23 percent improvement on the United Parkinson’s Disease Rating Scale (which assesses motor symptoms), compared to a 12 percent improvement in those who received sham surgery.
Their work appears in the journal The Lancet Neurology.
The study was designed to deliver the gene for glumatic acid decarboxylase (GAD), packaged in inert viral vectors, into an area of the brain called the subthalamic nucleus. GAD makes an important inhibitory chemical called GABA. The subthalamic nucleus is abnormally activated in Parkinson’s disease, leading to debilitating movement problems.
All participants in the study had a positron emission tomography (PET) brain scan before the surgery to confirm the diagnosis of Parkinson’s disease. Each patient in the active treatment received about a billion viral vectors.
The treated group showed a 23 percent improvement on the United Parkinson’s Disease Rating Scale (which assesses motor symptoms), compared to a 12 percent improvement in those who received sham surgery.
Their work appears in the journal The Lancet Neurology.
Tuesday, December 21, 2010
Your genome in minutes
Scientists from Imperial College London are developing technology that could ultimately sequence a person’s genome in mere minutes, at a fraction of the cost of current commercial techniques.
The researchers have patented an early prototype technology that they believe could lead to an ultrafast commercial DNA sequencing tool within ten years. Their work is described in a study published this month in the journal Nano Letters and it is supported by the Wellcome Trust Translational Award and the Corrigan Foundation.
The research suggests that scientists could eventually sequence an entire genome in a single lab procedure, whereas at present it can only be sequenced after being broken into pieces in a highly complex and time-consuming process. Fast and inexpensive genome sequencing could allow ordinary people to unlock the secrets of their own DNA, revealing their personal susceptibility to diseases such as Alzheimer’s, diabetes and cancer. Medical professionals are already using genome sequencing to understand population-wide health issues and research ways to tailor individualised treatments or preventions.
Dr Joshua Edel, one of the authors on the study from the Department of Chemistry at Imperial College London, said: “Compared with current technology, this device could lead to much cheaper sequencing: just a few dollars, compared with $1m to sequence an entire genome in 2007. We haven’t tried it on a whole genome yet but our initial experiments suggest that you could theoretically do a complete scan of the 3,165 million bases in the human genome within minutes, providing huge benefits for medical tests, or DNA profiles for police and security work. It should be significantly faster and more reliable, and would be easy to scale up to create a device with the capacity to read up to 10 million bases per second, versus the typical 10 bases per second you get with the present day single molecule real-time techniques.”
The researchers have patented an early prototype technology that they believe could lead to an ultrafast commercial DNA sequencing tool within ten years. Their work is described in a study published this month in the journal Nano Letters and it is supported by the Wellcome Trust Translational Award and the Corrigan Foundation.
The research suggests that scientists could eventually sequence an entire genome in a single lab procedure, whereas at present it can only be sequenced after being broken into pieces in a highly complex and time-consuming process. Fast and inexpensive genome sequencing could allow ordinary people to unlock the secrets of their own DNA, revealing their personal susceptibility to diseases such as Alzheimer’s, diabetes and cancer. Medical professionals are already using genome sequencing to understand population-wide health issues and research ways to tailor individualised treatments or preventions.
Dr Joshua Edel, one of the authors on the study from the Department of Chemistry at Imperial College London, said: “Compared with current technology, this device could lead to much cheaper sequencing: just a few dollars, compared with $1m to sequence an entire genome in 2007. We haven’t tried it on a whole genome yet but our initial experiments suggest that you could theoretically do a complete scan of the 3,165 million bases in the human genome within minutes, providing huge benefits for medical tests, or DNA profiles for police and security work. It should be significantly faster and more reliable, and would be easy to scale up to create a device with the capacity to read up to 10 million bases per second, versus the typical 10 bases per second you get with the present day single molecule real-time techniques.”
Wednesday, March 18, 2009
GENE TESTING TO FIND A CURE FOR PARKINSON'S
23andMe, the gene-testing company backed by Google Inc., wants to collect DNA from the spit of 10,000 people with Parkinson’s disease to hunt for common genes that may cause the illness or predict patients’ response to drugs.
To entice patients to participate, the Mountain View, California-based company will offer to test them for $25, a fraction of the normal $399 fee. The quest is personal for Ann Wojcicki, who helped start 23andMe in 2006. Her husband, Google co-founder Sergey Brin, has a gene variant that increases his risk of developing the neurological condition, which afflicts his mother.
One million North Americans and more than 4 million people worldwide have Parkinson’s, which causes people to tremble, shake and lose control of their body’s movements. The condition comes in different forms, and its causes are poorly understood, with a handful of genes known to increase the risk. 23andMe hopes to uncover others.
23andMe, a closely held company, is working with two nonprofit research groups, the Parkinson’s Institute in Sunnyvale, California, and the New York-based Michael J. Fox Foundation, which was founded in 2000 by Fox, an actor, who suffers from Parkinson’s.
In addition to genes, environmental factors including chemical exposure and drug use may also play a role in development of the illness. “We want to try and find out if there are other genetic variations that are associated with Parkinson’s or with rapid progression or slow progression,” said Wojcicki, in a telephone interview yesterday. “Also, why some people respond well to therapy, some people don’t, and some develop resistance faster.”
“We’re very frustrated with the pace of research discoveries and we felt one way to accelerate it would be to empower individuals and form communities and self-create a research cohort,” she said. “We also believe we are really democratizing research in a new way.”
Google invested about $3.9 million in 23andMe in 2007. Brin is helping to subsidize the reduced cost for the gene-testing that gets performed for each patient, Wojcicki said. 23andMe wouldn’t disclose the extent of his contribution.
To entice patients to participate, the Mountain View, California-based company will offer to test them for $25, a fraction of the normal $399 fee. The quest is personal for Ann Wojcicki, who helped start 23andMe in 2006. Her husband, Google co-founder Sergey Brin, has a gene variant that increases his risk of developing the neurological condition, which afflicts his mother.
One million North Americans and more than 4 million people worldwide have Parkinson’s, which causes people to tremble, shake and lose control of their body’s movements. The condition comes in different forms, and its causes are poorly understood, with a handful of genes known to increase the risk. 23andMe hopes to uncover others.
23andMe, a closely held company, is working with two nonprofit research groups, the Parkinson’s Institute in Sunnyvale, California, and the New York-based Michael J. Fox Foundation, which was founded in 2000 by Fox, an actor, who suffers from Parkinson’s.
In addition to genes, environmental factors including chemical exposure and drug use may also play a role in development of the illness. “We want to try and find out if there are other genetic variations that are associated with Parkinson’s or with rapid progression or slow progression,” said Wojcicki, in a telephone interview yesterday. “Also, why some people respond well to therapy, some people don’t, and some develop resistance faster.”
“We’re very frustrated with the pace of research discoveries and we felt one way to accelerate it would be to empower individuals and form communities and self-create a research cohort,” she said. “We also believe we are really democratizing research in a new way.”
Google invested about $3.9 million in 23andMe in 2007. Brin is helping to subsidize the reduced cost for the gene-testing that gets performed for each patient, Wojcicki said. 23andMe wouldn’t disclose the extent of his contribution.
Subscribe to:
Posts (Atom)